ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1207C>G (p.Arg403Gly) (rs3218714)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000614191 SCV000712859 likely pathogenic Hypertrophic cardiomyopathy 2017-01-09 criteria provided, single submitter clinical testing The p.Arg403Gly variant in MYH7 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.Arg403Gly variant may impact the protein, though this information is not predictive enough to determine pathogen icity. In addition, two other variants at this position, p.Arg403Trp and p.Arg40 3Gln, have been categorized as pathogenic by our laboratory, suggesting that cha nges at this position are not tolerated. Of note, this variant lies in the head region of the protein. Missense variants in this region have been reported and s tatistically indicated to be more likely to cause disease (Walsh 2016). In summ ary, although additional studies are required to fully establish its clinical si gnificance, the p.Arg403Gly variant is likely pathogenic.

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